Geometry.Net - Health_Conditions: Canavan Disease

NINDS Canavan Disease Information Page
Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.Category Health Conditions and Diseases Leukodystrophy Canavancanavan disease information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). More about canavan disease,
http://www.ninds.nih.gov/health_and_medical/disorders/canavn_doc.htm

Extractions: Canavan disease is a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the white matter is replaced by microscopic fluid-filled spaces). It is caused by a deficiency of an enzyme called aspartoacylase. Canavan disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator. Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or hearing loss may also occur. Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently.
Canavan Foundation :: Prevention Through Education And Testing
Not-for-profit foundation providing information about canavan disease, prenatal screening, support, Category Health Conditions and Diseases Leukodystrophy CanavanThe Canavan Foundation is a notfor-profit organization that was founded in 1992by the parents and friends of children affected by the canavan disease.
http://www.canavanfoundation.org/
The NTSAD Diseases Family: Canavan Disease
control. canavan disease belongs to a group of conditions known asleukodystrophies, which result from defects in myelin. Myelin
http://www.ntsad.org/pages/canavan.htm

Extractions: Canavan Disease CANAVAN DISEASE (CD) IS NAMED for Myrtelle Canavan, who first described the disorder in 1931. Since that time, much has been learned about the genetic and biochemical bases of the disease. Recent developments in the understanding of the genetic defect involved in Canavan Disease have increased not only the ability to diagnose CD accurately, but also the accuracy of carrier screening and prenatal detection for at-risk families. C linical signs in an individual with CD usually begin during infancy: parents may begin to notice subtle changes, such as visual inattentiveness or an inability to perform motor tasks, at around three to nine months. One of the earliest signs of CD recognized by many parents is overall low muscle tone and lack of head control. As the child grows, motor skills and mental functioning deteriorate. The child eventually becomes blind, but hearing remains sharp. Affected children continue to recognize and respond to the voices of their primary caregivers. Difficulties which arise as the child grows include stiffness, weakness of the muscles, seizures, and feeding problems. I t is not possible to describe all children with CD in the same way, since the presentation and progression of illness varies from child to child. Although many children with CD die in infancy, some survive into adolescence and even occasionally into adulthood.
Ntsad's What Every Family Should Know: The Allied Diseases Profiled
(AR). canavan disease, Aspartoacylase, 271900, Yes, Yes, 17, AR. CerebrotendinousXanthromatosis, Sterol27-Hydroxlase, No, Yes, 2, AR. Pelizaeus
http://www.ntsad.org/pages/ntsad.htm

Extractions: The Allied Diseases Profiled TAY-SACHS AND THE ALLIED DISEASES ARE GENETIC CONDITIONS CLASSIFIED as storage diseases. They are caused by the abnormal accumulation, or storage, of certain waste products in the cells or tissues of affected individuals. As these products build up, cells become damaged and gradually lose their ability to function properly, causing disease symptoms. While the specific clinical courses of these related disorders differ, there are certain commonalities, and children and adults affected with Tay-Sachs or any of the allied diseases share many issues associated with chronic, progressive illness. T he chart below provides a quick reference for the major characteristics of the allied diseases. Underlined words are links to more information on this site or elsewhere on the Internet. The Omim # refers to the catalogue citation on the Online Mendelian Inheritance In Man , the hypertext version of Victor McCusick's landmark catalogue of human genetic disease. A dditionally, the following Allied Diseases are profiled in more depth in their own sections: T his information is provided in response to a growing demand for knowledge and in the hopes of increasing awareness and understanding of these rare, but often devastating, diseases.
GeneReviews: Canavan Disease
Your browser does not support HTML frames so you must view canavan diseasein a slightly less readable form. Please follow this link to do so.
http://www.geneclinics.org/profiles/canavan/
1Up Health > Canavan Disease > Causes, Incidence, And Risk Factors Of Canavan Di
Comprehesive information on canavan disease (Aspartoacylase deficiency, Spongy degenerationof the brain). canavan disease Causes, Incidence, and Risk Factors.
http://www.1uphealth.com/health/canavan_disease_info.html

Extractions: 1Up Health Canavan disease Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Canavan disease Information Canavan disease Causes, Incidence, and Risk Factors Alternative names : Aspartoacylase deficiency, Spongy degeneration of the brain Definition : Canavan disease is an inherited disorder of aspartic acid metabolism that is characterized by degeneration of the white matter of the brain Canavan disease is inherited as an autosomal recessive trait and has a higher incidence among Ashkenazi Jews than the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain and subsequent degeneration of the white matter. Typical cases have onset of symptoms in the first year of life with loss of developmental milestones and death before 18 months of age.
1Up Health > Canavan Disease (Aspartoacylase Deficiency, Spongy Degeneration Of
Comprehesive information on canavan disease (Aspartoacylase deficiency, Spongy degenerationof the brain). 1Up Health Diseases Conditions canavan disease.
http://www.1uphealth.com/health/canavan_disease.html

Extractions: 1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Canavan disease Information Guide Alternative names : Aspartoacylase deficiency, Spongy degeneration of the brain Definition : Canavan disease is an inherited disorder of aspartic acid metabolism that is characterized by degeneration of the white matter of the brain A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).
Canavan Research Foundation - Canavan Disease
WHAT IS canavan disease? Like many other identified leukodystrophies, CanavanDisease interferes with the body's normal production of myelin.
http://www.canavan.org/whatis.html

Extractions: You can help! Click here for more information WHAT IS CANAVAN DISEASE? Canavan disease is a leukodystrophy - one of a spectrum of devastating neurological disorders in which the brain deteriorates due to a defective inherited gene. Like many other identified leukodystrophies, Canavan Disease interferes with the body's normal production of myelin. This fatty membrane, the central nervous system's "white matter", forms a protective coating around every nerve in the brain and spinal cord, to ensure that nerve impulses are properly transmitted from one part of the body to another. The elements of N-acetylaspartate acid, or NAA, a naturally-occurring compound in the brain, are thought to be instrumental in building myelin. Normally an enzyme, aspartoacyclase, breaks NAA down into the building blocks needed. In those afflicted with Canavan Disease, however, a gene mutation prevents production of this enzyme. NAA accumulates to dangerous levels, and the brain's communications network is seriously impaired. This leaves Canavan children incapable of performing the simplest functions. Even if they live to their full life expectancy - three to ten years - they become blind, paralyzed, prone to seizures...and increasingly lost to the world around them. Who Is At Risk?
Canavan Disease - Information And Support Resources
, Breast Cancers Prevention and Resources. ?, canavan disease. ?, Crohn'sDisease. Interactive ?. ?, Jewish Genetic Diseases Boards. canavan disease.
http://www.mazornet.com/genetics/canavan.asp

Extractions: Canavan Disease Canavan is an inherited disease which is due to lack of substance in the body called aspartoacylase (ASPA). It is a type of enzyme normally found in the part of the brain where nerve impulses are sent to other parts of the brain and the spinal cord. ASPA breaks down NAA into 2 smaller compounds. When ASPA is missing NAA builds up and causes brain damage, mental retardation, large head size tremors and inability to move muscles
Canavan Disease
canavan disease is a rare, inherited, neurological disorder characterized by degenerationof the brain in which the white matter is replaced by microscopic
http://healthlink.mcw.edu/article/921391101.html

Extractions: Subscribe now >> Canavan disease is a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the white matter is replaced by microscopic fluid-filled spaces). Canavan disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator. Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or hearing loss may also occur. Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive.
Statement On Carrier Testing For Canavan Disease
American College of Medical Genetics. Position Statement on CarrierTesting for canavan disease. canavan disease is a serious incurable
http://www.faseb.org/genetics/acmg/pol-31.htm

Extractions: Canavan Disease is a serious incurable genetic disorder which causes mental retardation and is often fatal in childhood. It is cased by a genetic abnormality which produces a deficiency of the enzyme aspartoacylase and is inherited in an autosomal recessive pattern. Like Tay-Sachs Disease, Canavan Disease occurs at a higher frequency in individuals with Ashkenazi Jewish ancestry, estimated to be 1/40. The screening test to identify individuals who are carriers is a DNA-based test that is performed by only a few specialized laboratories. If both reproductive partners have an Ashkenazi Jewish background, we recommend that carrier testing for Canavan Disease be offered before pregnancy. If only one partner is of Ashkenazi Jewish descent, she/he should be offered carrier testing and the couple should be counseled regarding the limitations and benefits of carrier testing and prenatal diagnosis for this situation. If a family member is affected, the probands mutation(s) should be defined and the relatives should be offered screening for this mutation(s).
MEDLINEplus Medical Encyclopedia: Canavan Disease
canavan disease. Expectations (prognosis) Return to top With canavan disease, thecentral nervous system degenerates, and progressive disability is likely.
http://www.nlm.nih.gov/medlineplus/ency/article/001586.htm

Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Alternative names Spongy degeneration of the brain; Aspartoacylase deficiency Definition Return to top Canavan disease is an inherited disorder of aspartic acid metabolism that is characterized by degeneration of the white matter of the brain Causes, incidence, and risk factors Return to top Canavan disease is inherited as an autosomal recessive trait and has a higher incidence among Ashkenazi Jews than the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain and subsequent degeneration of the white matter. Typical cases have onset of symptoms in the first year of life with loss of developmental milestones and death before 18 months of age. Symptoms Return to top Signs and tests Return to top Tests: Head CT showing degeneration of white matter (leukodystrophy) Head MRI scan showing degeneration of white matter (leukodystrophy)
Canavan Research Illinois - Canavan Disease - Dedicated To Curing Canavan Diseas
Information about this organization as well as about the disease, its research, fund raising and contact Category Health Conditions and Diseases Leukodystrophy CanavanCanavan Research Illinois is a volunteer 501(c)(3) childrens charity dedicatedto aggressively funding medical research to cure and treat canavan disease.
http://www.canavanresearch.org/

Extractions: Battling Canavan Disease Our beautiful 4½ month old baby boy was dying of Canavan disease, a degenerative brain disease for which there was no cure or treatment. At that point we decided to fight for our dear little Max and all the other children with Canavan disease. We soon learned that there was one chance in the world for our son... experimental research pioneered by parents determined to keep their children and hope alive. We joined forces with other families affected by Canavan disease in the hopes that no parent would ever have to hear those words again. We founded Canavan Research Illinois, a public charity dedicated to curing Canavan disease. Based in Illinois, Canavan Research Illinois is devoted to saving all the victims of Canavan disease. Because Canavan disease is rare, we receive no government funding and rely solely on private donations to fund life-saving medical research. By funding cutting-edge research we are giving these precious children a chance to have a future. Our efforts have resulted in the development of an improved gene replacement therapy. This new approach is expected to yield a greater benefit for the victims of Canavan disease, improving their quality of life.
Canavan Research Illinois - Canavan Disease Research - Dedicated To Curing Canav
What is canavan disease? As canavan disease is progressive, the brain disintegratesinto a spongy mass and even the most elemental signals cannot get through.
http://www.canavanresearch.org/whatis.htm

Extractions: What is Canavan Disease? C anavan disease is a rare and devastating fatal neurological disorder that affects the formation of myelin, or white matter of the brain. Myelin is the substance that insulates nerve cells, much like the insulation around a wire. The childhood victims of Canavan disease (such as Max Randell featured on the left) are loving and highly social, yet they are trapped in bodies that cannot respond to signals from the brain. I n Canavan disease (as illustrated on the far right) a defective gene impairs the formation of myelin and allows the accumulation of a toxic compound. Canavan children are unable to hold up their heads, sit up, crawl, and most will never say a single word. As Canavan disease is progressive, the brain disintegrates into a spongy mass and even the most elemental signals cannot get through. Unless a cure is found, most Canavan children will die before their 10th birthday. These precious children gradually go blind, lose the ability to swallow, require feeding tubes, and can eventually fall into a vegetative state with no voluntary movement. C anavan Research Illinois, a 501(c)(3) public charity, is dedicated to aggressively funding medical research to treat and cure all the precious little victims of Canavan disease. Canavan disease has robbed these children of so much, but never of the love of their families, friends, and a loving community of people like yourselves who are helping us to make a difference. Together we can
Medem: Medical Library: Canavan Disease
Printerfriendly format. canavan disease. What Is canavan disease? There isno cure for canavan disease, nor is there a standard course of treatment.
http://www.medem.com/MedLB/article_detaillb.cfm?article_ID=ZZZ6HF7H7JC&sub_cat=5
Medem: Medical Library: Canavan Disease - For Printer
Medical Library. Done with printing. canavan disease. What Is canavan disease? Thereis no cure for canavan disease, nor is there a standard course of treatment.
http://www.medem.com/MedLB/article_detaillb_for_printer.cfm?article_ID=ZZZ6HF7H7
Canavan Disease Patent Case
canavan disease Patent Case. The Canavan Case is a case study that examinesthe use of a patent covering the molecular diagnosis of disease.
http://www.med.upenn.edu/bioethic/programs/benefit/canavan.shtml

Extractions: Home Canavan Disease Patent Case The Research The Patent and Licensing Ethical Issues ... Discussion The Canavan Case is a case study that examines the use of a patent covering the molecular diagnosis of disease. This case has come to symbolize some of the negative effects gene patents may have on the provision of clinical medical services. The case has also caused many to consider the need for benefit sharing as one way for recognizing the contribution of patient groups and families to research and discovery. This essay is abstracted from a longer paper appearing as a chapter entitled Discoveries: Are There Limits on What may be Patented? in Who Owns Life? (Magnus D, Caplan A, McGee G, eds. Amherst NY: Prometheus Books, 2002). The study of this case was supported in part by grants from the Greenwall Foundation, the Charles E. Culpeper Foundation, the NIH, DOE and VA Consortium on Informed Consent Research, and a grant from the Dodge Foundation. I am indebted to Judith Tsipis, Daniel Greenberg, and Orren Alperstein Gelblum for sharing their personal stories and experiences with Canavan disease and the described research project, for actively involving me in their unfolding saga with Miami Children's Hospital, for freely sharing background information on the case, and for reading and commenting on earlier drafts of this manuscript; knowledge about the Canavan disease gene, like this chapter, would not exist but for their contributions. I received an honorarium from the Canavan Foundation for participating in the aforesaid meeting with MCH, and I have agreed to provide
Canavan Disease Patient Case
The Research. In 1981, Dan and Debbie Greenberg had a son, Jonathan. AfterJonathan failed to thrive, he was diagnosed with canavan disease.
http://www.med.upenn.edu/bioethic/programs/benefit/canavanA.shtml

Extractions: Home Canavan Disease Patent Case The Research The Patent and Licensing Ethical Issues ... Discussion In 1981, Dan and Debbie Greenberg had a son, Jonathan. After Jonathan failed to thrive, he was diagnosed with Canavan Disease. Canavan is a recessive genetic disease that will strike on average 1 of 4 children of couples when both parents carry a gene mutation that causes the disease. It is a degenerative spongiform brain disease that irreversibly leads to loss of body control and death, usually before the teen years. [i] There is no cure. In 1983, the Greenbergs had another child, Amy, who, against the odds, also was stricken with the disease. In 1987, Dan Greenberg approached Dr. Reuben Matalon and convinced him to study Canavan Disease. Matalon ran a laboratory performing clinical testing and research of phenylketonuria (PKU) and other familial disorders at the University of Illinois in Chicago. With blood, urine, and other tissue samples provided by the Greenbergs and another family affected by the disease, and seed money provided by Greenbergs Chicago chapter of the National Tay-Sachs and Allied Diseases Association (NTSAD), within a year Matalon identified the deficiency of an enzyme, aspartoacylase, as the cause of Canavan Disease. This was great news, because it offered the possibility of a prenatal screening test.
National Tay-Sachs & Allied Diseases Association Of Delaware Valley
ewborns with canavan disease appear healthy until between three and nine months ofage when subtle changes are noticeable, such as visual inattentiveness or an
http://www.tay-sachs.org/whatisca.htm

Extractions: ewborns with Canavan disease appear healthy until between three and nine months of age when subtle changes are noticeable, such as visual inattentiveness or an inability to grasp objects, roll over and perform other motor tasks. The child eventually becomes blind, but hearing remains sharp, so that affected children continue to respond to the voices of their caregivers. As the child grows, the presentation and progression of Canavan symptoms vary from one child to the next. In general, difficulties that surface include weak muscles that keep children from sitting or crawling, seizures and eating problems. Children with Canavan disease usually die in infancy or early childhood, although some survive into adolescence. Canavan disease (CD) belongs to a group of conditions known as leukodystrophies, characterized by defects in myelin, commonly known as the "white matter" in the brain. Myelin protects nerves and allows messages to be sent to and from the brain. All CD symptoms are explained by the progressive loss of myelin.
National Tay-Sachs & Allied Diseases Association Of Delaware Valley
Number 212, November 1998 Screening for canavan disease canavan disease isa severe progressive genetic disorder of the central nervous system.
http://www.tay-sachs.org/develop.htm

Extractions: Canavan Disease is a severe progressive genetic disorder of the central nervous system. The clinical features of Canavan disease usually appear after the first few months of life and include developmental delay, macrocephaly, hypotonia, and poor head control. As the disease progresses, seizures, optic atrophy, gastrointestinal reflux, and deterioration of swallowing develop. Most children with Canavan disease die in the first decade of life. presently, there is no cure or effective therapy for Canavan disease. Canavan disease is caused by a deficiency of the enzyme aspartoacylase, which leads to increased excretion of its substrate, N-acetylaspartic acid (NAA). A diagnosis of Canavan disease is established by determining an increased level of urinary NAA by organic acid analysis. These abnormally high levels of NAA lead to demyelination and spongy degeneration of the brain, which cause the neurologic features of Canavan disease.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

1-20 of 92 1 | 2 | 3 | 4 | 5 | Next 20